scholarly journals Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation

1998 ◽  
Vol 6 (6) ◽  
pp. 563-569 ◽  
Author(s):  
Satoko Abe ◽  
Shin-ichi Usami ◽  
Hideichi Shinkawa ◽  
MikeD Weston ◽  
LarryD Overbeck ◽  
...  
Keyword(s):  
Phylogenetic Analysis ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
A1555g Mutation

scholarly journals Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature

2008 ◽  
Vol 28 (1) ◽  
pp. 49-59 ◽  
Author(s):  
Stefano Berrettini ◽  
Francesca Forli ◽  
Susanna Passetti ◽  
Anna Rocchi ◽  
Luca Pollina ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Sensorineural Hearing ◽  
Pathological Study ◽  
Mtdna Mutations ◽  
A1555g Mutation ◽  
Sensorineural Hearing Impairment

Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic forms of hearing impairment. Their real incidence as a cause of deafness is poorly understood and generally underestimated. Among the known mtDNA mutations, the A1555G mutation in the 12S gene has been identified to be one of the most common genetic cause of deafness, and it has been described to be both associated to non-syndromic progressive SNHL (sensorineural hearing loss) and to aminoglycoside-induced SNHL. In the present study, we have investigated the presence of mtDNA alterations in patients affected by idiopathic non-syndromic SNHL, both familiar and sporadic, in order to evaluate the frequency of mtDNA alterations as a cause of deafness and to describe the audiological manifestations of mitochondrial non-syndromic SNHL. In agreement with previous studies, we found the A1555G mutation to be responsible for a relevant percentage (5.4%) of cases affected with isolated idiopathic sensorineural hearing impairment.

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss

2009 ◽  
Vol 390 (3) ◽  
pp. 755-757 ◽  
Author(s):  
Haris Kokotas ◽  
Maria Grigoriadou ◽  
George S. Korres ◽  
Elisabeth Ferekidou ◽  
Eleftheria Papadopoulou ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

scholarly journals Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss

2008 ◽  
Vol 74 (5) ◽  
pp. 731-736 ◽  
Author(s):  
Luciano Pereira Maniglia ◽  
Bruna Carolina Lemos Moreira ◽  
Magali Aparecida Orate Menezes da Silva ◽  
Vânia Belintani Piatto ◽  
José Victor Maniglia
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
A1555g Mutation

Etiologic diagnosis of sensorineural hearing loss in adults

2005 ◽  
Vol 132 (6) ◽  
pp. 890-895 ◽  
Author(s):  
Simon I. Angeli ◽  
Denise Yan ◽  
Fred Telischi ◽  
Thomas J. Balkany ◽  
Xiao M. Ouyang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Medical Center ◽  
Academic Medical Center ◽  
Sensorineural Hearing ◽  
Gjb2 Gene ◽  
High Resolution Computed Tomography ◽  
Vestibular Aqueduct ◽  
Etiologic Diagnosis

OBJECTIVE: To determine the etiology of adult-onset sensorineural hearing loss. STUDY DESIGN AND SETTING: This is a prospective cohort study of 60 adult subjects with bilateral sensorineural hearing loss of no obvious etiology by medical history and physical examination. These patients were evaluated at an academic medical center and underwent evaluation by high-resolution computed tomography of the temporal bone, autoimmune panel, and DNA testing for mutations of both the GJB2 gene and the mitochondrial DNA (1555A>G and 7445A>G). RESULTS: An etiologic diagnosis was achieved in 6 patients: cochlear otosclerosis, 1 case; dilated vestibular aqueduct, 1 case; a mitochondrial DNA 7445A>G mutation, 3 cases; and a mitochondrial DNA 1555A>G mutation, 1 case. CONCLUSION: This result underscores the importance of a search for the etiology of a hearing deficit in adult patients. There are specific interventions now available for the management of hearing-impaired patients with cochlear otosclerosis and mitochondrial DNA mutations.

Hereditary Sensorineural Hearing Loss of Unknown Cause Involving Mitochondrial DNA 1555 Mutation

ORL ◽  
2000 ◽  
Vol 62 (2) ◽  
pp. 100-103 ◽  
Author(s):  
Satoshi Iwasaki ◽  
Yuya Tamagawa ◽  
Shuji Ocho ◽  
Tomoyuki Hoshino ◽  
Ken Kitamura
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing

scholarly journals Mitochondrial Diabetes: The Clinical Spectrum of MIDD and MELAS in Association With the A3243G Mutation

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A392-A393
Author(s):  
Khulood Bukhari ◽  
Marjorie Pennant
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Lactic Acidosis ◽  
Sensorineural Hearing Loss ◽  
Medical History ◽  
Sensorineural Hearing ◽  
Restricted Diffusion ◽  
Patient Reported ◽  
A3243g Mutation ◽  
The Brain

Abstract Introduction: Maternally inherited diabetes and deafness (MIDD) is a multisystem disorder characterized by insulinopenia and sensorineural hearing loss. This rare form of monogenic diabetes is most commonly associated with the A3243G mutation of mitochondrial DNA (mtDNA). The same mutation is seen in 80 percent of patients with MELAS (Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes). MIDD and MELAS have overlapping features suggesting a continuum of expression for the A3243G mutation. Clinical Case: A 41-year-old male was referred for genetic testing and counseling by his ophthalmologist following detection of bilateral punched-out retinal pigment epithelium (RPE) lesions on routine exam. His medical history was significant for type 1 diabetes mellitus (T1DM) diagnosed at the age of 21 and bilateral sensorineural hearing loss diagnosed at the age of 38. The referral was triggered by patient reported family history of MELAS in two of his brothers who were both diagnosed at the age of 10 and died at the ages of 20 and 27. Whether the patient was previously tested during early childhood remains unclear. His medical history was negative for stroke-like episodes or seizures. Neurologic evaluation revealed mild fluent aphasia with paraphasic errors and some comprehension difficulties. MRI of the brain without contrast showed no focus of restricted diffusion. Mitochondrial DNA sequence analysis was performed. A pathogenic variant (m.3243 A>G) was detected in the MT-TL1 gene at approximately 25% heteroplasmy. The patient was advised to avoid metformin given increased risk for lactic acidosis. He was also instructed against use of statins. At the age of 45, the patient presented to the emergency department (ED) with a complaint of headache, vertigo and incoordination. Physical examination revealed left homonymous hemianopsia, right horizontal nystagmus and bilateral upper extremity dysmetria. MRI of the brain without contrast showed a large area of predominantly cortical restricted diffusion involving the right temporal and occipital region with associated T2/FLAIR hyper-intensity. Cross over between the PCA and MCA territories was suggestive of a stroke-like episode related to MELAS. The patient received a bolus of IV arginine at 0.5 g/kg followed by an IV infusion of 0.5 g/kg/day for 3 days. He was later transitioned to oral arginine 5g three times daily and was discharged to a rehab facility. Clinical Lesson: This case demonstrates the evolution of MIDD to MELAS, supporting the concept that both syndromes represent a spectrum of the same disease. A few case reports describe the progression of MIDD to MELAS. Why some patients develop MELAS and others develop MIDD is unclear but may be related to heteroplasmy. Early identification of MIDD and MELAS is crucial given associated comorbidities and unique management issues.

scholarly journals Sensorineural Hearing Loss Associated with Mitochondrial DNA Mutation

2003 ◽  
Vol 46 (6) ◽  
pp. 595-600
Author(s):  
Shunsuke Miyamoto ◽  
Hajime Sano ◽  
Yuichi Ono ◽  
Mitsukuni Nitta ◽  
Makito Okamoto
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation
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